About: guanidinoacetate methyltransferase deficiency

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	cerebral creatine deficiency syndrome
label	guanidinoacetate methyltransferase deficiency
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0050799
created_by	lschriml
creation_date	2013-11-21T12:10:58Z
database_cross_reference	GARD:2578 MESH:C537622 OMIM:612736
has_exact_synonym	CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (en) GAMT deficiency (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A cerebral creatine deficiency syndrome that is characterized by severe intellectual disability, seizures, speech problems and involuntary movements, has_material_basis_in homozygous or compound heterozygous mutation in the GAMT gene on chromosome 19p13.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50937621

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